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Journal Abstract Search

152 related items for PubMed ID: 7599631

  • 41. Clinical and molecular diagnosis of Alport syndrome.
    Kashtan CE.
    Proc Assoc Am Physicians; 1995 Oct; 107(3):306-13. PubMed ID: 8608415
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  • 42. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.
    Tazón-Vega B, Ars E, Burset M, Santín S, Ruíz P, Fernández-Llama P, Ballarín J, Torra R.
    Am J Kidney Dis; 2007 Aug; 50(2):257.e1-14. PubMed ID: 17660027
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  • 43. Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome.
    Zhou J, Gregory MC, Hertz JM, Barker DF, Atkin C, Spencer ES, Tryggvason K.
    Kidney Int; 1993 Mar; 43(3):722-9. PubMed ID: 8455372
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  • 44. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
    Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M.
    Am J Med Genet; 1995 Nov 20; 59(3):380-5. PubMed ID: 8599366
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  • 45. A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.
    Hertz JM, Heiskari N, Zhou J, Jensen UB, Tryggvason K.
    Kidney Int; 1995 Jan 20; 47(1):327-32. PubMed ID: 7731166
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  • 46. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
    Martin P, Heiskari N, Zhou J, Leinonen A, Tumelius T, Hertz JM, Barker D, Gregory M, Atkin C, Styrkarsdottir U, Neumann H, Springate J, Shows T, Pettersson E, Tryggvason K.
    J Am Soc Nephrol; 1998 Dec 20; 9(12):2291-301. PubMed ID: 9848783
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  • 49. Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
    Zhou J, Hertz JM, Leinonen A, Tryggvason K.
    J Biol Chem; 1992 Jun 25; 267(18):12475-81. PubMed ID: 1352287
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  • 50. Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
    Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP.
    J Med Genet; 2013 Nov 25; 50(11):745-53. PubMed ID: 23958657
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  • 51. Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome.
    Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin CL, Netzer KO, Weber M, Reeders S, Grönhagen-Riska C, Neumann HP, Trembath R, Tryggvason K.
    J Am Soc Nephrol; 1996 May 25; 7(5):702-9. PubMed ID: 8738805
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  • 52. Identification of mutations in the COL4A5 collagen gene in Alport syndrome.
    Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K.
    Science; 1990 Jun 08; 248(4960):1224-7. PubMed ID: 2349482
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  • 54. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
    Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C.
    J Am Soc Nephrol; 2001 Jan 08; 12(1):97-106. PubMed ID: 11134255
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  • 55. Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
    Smeets HJ, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC.
    Kidney Int; 1992 Jul 08; 42(1):83-8. PubMed ID: 1635357
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  • 56. [Detection of large deletions in X linked Alport syndrome using competitive multiplex fluorescence polymerase chain reaction].
    Wang F, Zhang YQ, Ding J, Yu LX.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct 18; 49(5):760-767. PubMed ID: 29045953
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  • 60. Mutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.
    Kitagawa K, Nakanishi K, Iijima K, Nishio H, Sado Y, Sano K, Nakamura H, Yoshikawa N.
    J Am Soc Nephrol; 1995 Aug 18; 6(2):264-8. PubMed ID: 7579094
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